Partial monosomy 1q43 and partial trisomy 20q13.2: a case report

被引:0
|
作者
Ho, Boey S. [1 ]
McCready, Elizabeth [2 ]
Nowaczyk, Malgorzata J. M. [2 ,3 ]
机构
[1] McMaster Univ, BHSc Program, Fac Hlth Sci, Hamilton, ON, Canada
[2] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada
[3] McMaster Univ, Dept Pediat, Hamilton, ON, Canada
关键词
CORPUS-CALLOSUM; DELETION; 20Q; TRANSLOCATION; DUPLICATION; AGENESIS; REGION; AKT3;
D O I
10.1097/MCD.0000000000000125
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:128 / 132
页数:5
相关论文
共 50 条
  • [41] Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings
    Hagen, Anja
    Bigl, Arndt
    Wand, Dorothea
    Klopocki, Eva
    Heller, Raoul
    Siekmeyer, Manuela
    Siekmeyer, Werner
    Kiess, Wieland
    Merkenschlager, Andreas
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (12) : 3075 - 3081
  • [42] Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31)
    VanBuggenhout, G
    Moerman, P
    Fryns, JP
    GENETIC COUNSELING, 1997, 8 (01): : 19 - 24
  • [43] Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features
    Dhangar, Somprakash
    Korgaonkar, Seema
    Vundinti, Babu Rao
    INTRACTABLE & RARE DISEASES RESEARCH, 2019, 8 (01) : 72 - 77
  • [44] A Novel Maternally-Derived Insertional Translocation Resulting in Partial Trisomy 4q13.2-q22.1 With Complex Translocation t(8;20) in a Family With Intellectual Disability
    Assawamakin, Anunchai
    Wattanasirichaigoon, Duangrurdee
    Tocharoentanaphol, Chintana
    Waeteekul, Supaporn
    Tansatit, Montakarn
    Thongnoppakhun, Wanna
    Limwongse, Chanin
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 901 - 908
  • [45] Partial Trisomy 1q41-qter and Partial Trisomy 9pter-9q21.32 in a Newborn Infant: An Array CGH Analysis and Review
    Akalin, Ibrahim
    Bozdag, Senol
    Spielmann, Malte
    Basaran, Sarenur Yilmaz
    Nanda, Indrajit
    Klopocki, Eva
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (02) : 490 - 494
  • [46] A Partial Trisomy 1q Patient With a Deletion 1q22 and an Insertion 1(q42q44) Into 1q22
    Misceo, Doriana
    Rocchi, Mariano
    van der Hagen, Carl Birger
    Frengen, Eirik
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (02) : 290 - 293
  • [47] Partial Monosomy of 11q22.2q22.3 Including the SDHD Gene in Individuals with Developmental Delay
    Yelavarthi, Krishna
    Cabral, Huong
    Wilson, Golder N.
    Rohena, Luis
    Risheg, Hiba
    Penton, Andrea
    Schleede, Justin
    Burnside, Rachel D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (04) : 695 - 700
  • [48] PARTIAL TRISOMY 10Q (10Q25.1→QTER) AN PARTIAL MONOSOMY 13Q (13Q34→QTER) PRESENTING WITH FETAL PYELECTASIS: PRENATAL DIAGNOSIS AND ARRAY COMPARATIVE GENOMIC HYBRIDIZATION CHARACTERIZATION
    Chen, Chih-Ping
    Su, Yi-Ning
    Tsai, Fuu-Jen
    Chern, Schu-Rern
    Hsu, Chin-Yuan
    Wu, Pei-Chen
    Lee, Chen-Chi
    Chen, Wen-Lin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2010, 49 (04): : 539 - 543
  • [49] Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy
    Martin-de Saro, Monica
    Compean, Zyndia
    Aguilar, Karina
    Gonzalez-Huerta, Luz Maria
    Plaza-Benhumea, Lautaro
    Messina-Baas, Olga
    Cuevas-Covarrubiass, Sergio Alberto
    MOLECULAR SYNDROMOLOGY, 2021, 12 (05) : 305 - 311
  • [50] Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3 → pter) and partial trisomy 16q (16q23.1 → qter)
    Chen, Chih-Ping
    Hung, Fung-Yu
    Chern, Schu-Rern
    Wu, Peih-Shan
    Chen, Yen-Ni
    Chen, Shin-Wen
    Lee, Chen-Chi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2016, 55 (02): : 288 - 292